NPPA wt Allele

Preferred Label : NPPA wt Allele;

NCIt synonyms : CDD-ANF; CDP; Natriuretic Peptide A wt Allele; ATRST2; ANF; CDD; ANP; PND; ATFB6;

NCIt definition : Human NPPA wild-type allele is located in the vicinity of 1p36.22 and is approximately 3 kb in length. This allele, which encodes natriuretic peptides A, plays a role in the regulation of natriuresis, diuresis, and vasodilation. Mutation of the gene is associated with atrial fibrillation familial type 6 and atrial standstill type 2.;

NCI Metathesaurus CUI : CL537993;

GenBank Accession Number : BC005893;

Details

Origin ID

C139908;

UMLS CUI

C4552608;

Automatic exact mappings (from CISMeF team)
- ANP [MedDRA LLT]
- Aplasia of diaphragm (disorder) [SNOMED CT concept]
- Atrial natriuretic peptide [MedDRA Preferred Term]
- Atrial standstill 2 [OMIM Phenotype]
- CDKL5-deficiency disorder [ORDO Disease]
- Chondrodysplasia punctata [ORDO Disease]
- Craniodiaphyseal dysplasia [OMIM Phenotype]
- Craniodiaphyseal dysplasia, autosomal dominant [OMIM Phenotype]
- Cut-like homeobox 1 [OMIM gene]
- Cytidine diphosphate (substance) [SNOMED CT concept]
- HESX homeobox 1 [ORDO Gene]
- Natriuretic peptide precursor a [OMIM gene]
- Posterior rhinorrhea (disorder) [SNOMED CT concept]
- Structural developmental anomalies of diaphragm [ICD-11 Category]
- atrial natriuretic factor [MeSH Descriptor]
- cut like homeobox 1 [ORDO Gene]
- cytidine diphosphate [MeSH Descriptor]
- natriuretic peptide A [ORDO Gene]
OMIM relation
- Natriuretic peptide precursor a [OMIM gene]
See also inter- (CISMeF)
- Atrial fibrillation, familial, 6 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- ALK Pathway [NCIt concept]
- Corticosteroid Cardioprotection Pathway [NCIt concept]
- NFAT Pathway [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Pregnancy [NCIt concept]
- Receptor Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Vasodilation [NCIt concept]

Keyword's position in hierarchy(ies) :

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